{
    "disease_id": "DOID:0090142",
    "recommended_name": {
        "id": "DOID:0090142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090142",
        "name": "cystathioninuria",
        "description": "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "cystathionase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "cystathione gamma-lyase deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "gamma-cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria",
            "description": "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases."
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "gamma-cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MIM:219500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219500",
            "name": "Cystathioninuria",
            "description": "Cystathioninuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090142"
    ],
    "unlinked_id_list": []
}